Results 41 to 50 of about 6,677,368 (199)

Assessment of functional capacity of teens who are Mucopolysaccharidosis type II carriers

Cadernos Brasileiros de Terapia Ocupacional, 2017
Introduction: Mucopolysaccharidosis II (MPS II) is an X-linked genetic disease which almost exclusively affects males. The disease presents a multisystem form, caused by the progressive accumulation of glycosaminoglycans (GAGs) in tissues and organs.
Ingrid Alves Barros Silva Amaral, Reinaldo Luna de Omena Filho, João Ancelmo dos Reis Neto, Monique Carla da Silva Reis   +3 more
doaj   +1 more source

遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. [PDF]

, 1995
博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
396222, 祐川, 和子
core   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Beyond the label: Rethinking off‐label drug use in paediatrics. Towards a scientifically grounded and safer future for paediatric pharmacotherapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden, Miriam G. Mooij, Matthijs de Hoog, Saskia N. de Wildt   +3 more
wiley   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II.

, 2014
Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II.
Anna Tylki-Szymańska (508670), Agnieszka Różdżyńska-Świątkowska (508668), Agnieszka Jurecka (508669), Zbigniew Żuber (508667)   +3 more
core   +1 more source

Identification of the Glycosaminoglycan Metabolism‐Related Protein IDUA Associated With Tumor Progression and Prognosis in ccRCC

Cancer Medicine, Volume 15, Issue 11, November 2026.
ABSTRACT Objective This study investigated the expression, prognostic significance, and functional role of α‐L‐iduronidase (IDUA) in clear cell renal cell carcinoma (ccRCC). Methods We performed two‐sample Mendelian randomization using eQTL and ccRCC GWAS data. We analyzed transcriptomic and clinical data from TCGA and GEO cohorts.
Zhangjun Cao, Songbai Yan, Wenhao Chu, Haichao Yuan, Zefeng Shen, Liangkuan Bi, Longfei Peng   +6 more
wiley   +1 more source

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, Volume 120, Issue 5, Page 1338-1347, November 2026.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

Bringing Untargeted Metabolomics to the Clinic: Real‐World Data and Implementation for Screening of Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Inherited metabolic diseases (IMD) require timely diagnosis since a considerable number of these disorders respond to early treatment. Traditional metabolic screening relies on multiple targeted assays guided by clinical symptoms, making it laborious and potentially increasing the risk of underdiagnosis.
D. Augustijn, R. Bonte, M. C. Hagemeijer, J. Bierau, E. H. Jacobs, C. J. Klein‐de Ronde, E. van der Star, D. Y. van Haaften‐Visser, N. C. Peltenburg‐de Jong, C. Debuy, M. van Dijk, D. Vos, G. J. G. Ruijter, S. M. I. Goorden   +13 more
wiley   +1 more source